Advances in Autism
Open accessAbstract
Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based on studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research.
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Heterogeneity in autism can arise from differences in core diagnostic features and associated features such as IQ, adaptive behavior and motor coordination.
“Heterogeneity in autism can arise from multiple, partly overlapping sources. This includes differences in core diagnostic features (core features)1,3,4 and associated features such as IQ, adaptive behavior and motor coordination, all of which have an impact on life outcomes3,5,6.”
From Genetic correlates of phenotypic heterogeneity in autism (2022) · cites this paper as [4]
The overrepresentation of high-risk siblings in latent classes with subtly disturbed functioning is consonant with genetic models of autism spectrum disorder that encompass transmission of subclinical manifestations in a subset of first-degree relatives.
“The overrepresentation of HR siblings among latent classes characterized by subtly disturbed levels of functioning is consonant with genetic models of ASD that encompass the transmission of subclinical manifestations of the autistic syndrome in a subset of first-degree relatives, on the basis of either incomplete penetrance or additive (multigenic) models of inheritance.39–41”
From Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age (2013) · cites this paper as [40]
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References 100 · Cited by 512
- Authors
- Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- Corresponding author
- Geschwind, Daniel H.
- ORCID
- Geschwind, Daniel H.
- Venue
- Annual Review of Medicine
- Publisher
- Annual Reviews
- Published
- 2009-02-01
- Volume
- 60
- Issue
- 1
- Pages
- 367-380
- ISSN
- 0066-4219 (ISSN-L)
- 1545-326X
- PMC
- PMC3645857
- OpenAlex
- W2145055578
- Cited by
- 512
- References
- 100
- Citations by year
- 2026: 12 · 2025: 18 · 2024: 28 · 2023: 20 · 2022: 23 · 2021: 26 · 2020: 27 · 2019: 22 · 2018: 25 · 2017: 33 · 2016: 33 · 2015: 35 · 2014: 28 · 2013: 50 · 2012: 50
- FWCI
- 3.22
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Annual Review of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH081754, R01MH064547)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055784)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- autism spectrum disorder, autism genetics, genetic susceptibility, etiologic heterogeneity, endophenotypes, social cognition, language deficits, neuropathology, early intensive behavioral intervention, targeted therapy, autism subtypes
- MeSH terms
- Autistic Disorder, Brain, Humans
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